Human gene essentiality

Nature Reviews Genetics, Published online: 30 October 2017; doi:10.1038/nrg.2017.75

Characterizing the essentiality of human genes provides insights into gene function and genome evolution and facilitates the clinical interpretation of genetic variants. This article analyses essentiality metrics based on the statistical intolerance to loss-of-function mutations in human population sequencing studies and discusses commonalities and distinctions relative to data sets from knockout mice and functional genomics screens in human cell culture. Implications for disease genetics and extrapolation to non-coding regions are also discussed.

中文翻译：

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人类基因的重要性

人类基因的重要性

《自然评论遗传学》（Nature Reviews Genetics），在线发布：2017年10月30日; doi：10.1038 / nrg.2017.75

表征人类基因的本质提供了对基因功能和基因组进化的见解，并有助于对基因变异的临床解释。本文基于人口测序研究中对功能丧失突变的统计不容忍度，分析了必要性指标，并讨论了与基因敲除小鼠的数据集和人类细胞培养中的功能基因组学筛选相关的共性和区别。还讨论了疾病遗传学和外推到非编码区的含义。